familial hypobetalipoproteinemia 1

Summary
Synonym
  • FHBL1
Definition
A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.
Super Class
hypobetalipoproteinemia
Disease Ontology
DOID:0111062
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
338 APOB apolipoprotein B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04114 Apolipoprotein B-100

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025